Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish

por Schwoerer, Jessica Scott, Drilias, Nicoletta, Kuhl, Ashley, Mochal, Sean, Baker, Mei
Publicado 2018

Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay

por Zepeda‐Mendoza, Cinthya, Goodenberger, McKinsey L., Kuhl, Ashley, Rice, Gregory M., Hoppman, Nicole
Publicado 2019

No association between SCN9A and monogenic human epilepsy disorders

por Fasham, James, Leslie, Joseph S., Harrison, Jamie W., Deline, James, Williams, Katie B., Kuhl, Ashley, Scott Schwoerer, Jessica, Cross, Harold E., Crosby, Andrew H., Baple, Emma L.
Publicado 2020